,
Hüffmeier, Ulrike http://orcid.org/0000-0001-6448-4671
Kraus, Cornelia
Reuter, Miriam S.
Uebe, Steffen
Abbott, Mary-Alice
Ahmed, Syed A.
Rawson, Kristyn L.
Barr, Eileen
Li, Hong
Bruel, Ange-Line
Faivre, Laurence
Tran Mau-Them, Frédéric
Botti, Christina
Brooks, Susan
Burns, Kaitlyn
Ward, D. Isum
Dutra-Clarke, Marina
Martinez-Agosto, Julian A.
Lee, Hane
Nelson, Stanley F.
Zacher, Pia
Abou Jamra, Rami
Klöckner, Chiara
McGaughran, Julie
Kohlhase, Jürgen
Schuhmann, Sarah
Moran, Ellen
Pappas, John
Raas-Rothschild, Annick
Sacoto, Maria J. Guillen
Henderson, Lindsay B.
Palculict, Timothy Blake
Mullegama, Sureni V.
Zghal Elloumi, Houda
Reich, Adi
Schrier Vergano, Samantha A.
Wahl, Erica
Reis, André
Zweier, Christiane
Funding for this research was provided by:
Center for Clinical and Translational Sciences (UL1TR001881)
Interdisziplinäres Zentrum für Klinische Forschung, Universitätsklinikum Erlangen (E31)
Friedrich-Alexander-Universität Erlangen-Nürnberg
Article History
Received: 10 December 2020
Accepted: 15 February 2021
First Online: 18 March 2021
Ethics approval and consent to participate
: The study was approved by the ethical committee of the Friedrich-Alexander-Universität Erlangen-Nürnberg (253_15 B, 71_17 B), and by local ethics boards of the contributing institutions.
: All parents or the legal guardians gave written informed consent before enrollment, including consent to publish clinical pictures of the six patients shown in Figs. and .
: The authors MJGS, LBH, TBP, SVM, HZE and AdR are employees of GeneDX, Inc. All other authors declare to have no competing interests.